Varaico: Literature-Extracted Genetic Variants

ANOS1

382 papers

RefSeq Summary

Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this ce...

Pfam Domains

Cys_boxaa 44–125UCSCAnosmin cysteine rich domain

WAPaa 130–175UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

fn3aa 184–281UCSCFibronectin type III domain

Ig_ANOS1aa 282–403UCSCAnosmin-1, immunoglobulin-like domain

Ig_ANOS1aa 409–527UCSCAnosmin-1, immunoglobulin-like domain

fn3aa 549–652UCSCFibronectin type III domain

Gene Aliases

HGNC Name

anosmin 1

HGNC Previous Symbols

KAL; ADMLX; KAL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000216.4

p.L200M

c.598C>A

Surrounding Variants

2 papers

NM_000216.4

p.L200V

c.598C>G

1 paper

NM_000216.4

p.Q199L

c.596A>T

1 paper

NM_000216.4

p.Q199fs

c.595_596fs

1 paper

NM_000216.4

p.Q196_G198insFs

c.587_594dup8

1 paper

NM_000216.4

p.V202delFs

c.604delC

1 paper

NM_000216.4

p.K203R

c.608A>G

1 paper

NM_000216.4

p.K203T

c.608A>C

2 papers

NM_000216.4

p.W204*

c.611G>A

2 papers

NM_000216.4

p.W204*

c.612G>A

1 paper

NM_000216.4

p.E194E

c.582A>G

1 paper

NM_000216.4

p.R187_F192del6

c.559_575del18

1 paper

NM_000216.4

p.K207E

c.619A>G